Abetalipoproteinemia is also known as?

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Multiple Choice

Abetalipoproteinemia is also known as?

Abetalipoproteinemia is classically the Bassen-Kornzweig syndrome. This name comes from the physicians who first described the condition, tying the syndrome to a congenital defect in the assembly of apoB-containing lipoproteins (chylomicrons and VLDL) due to MTP dysfunction. Because apoB-containing lipoproteins are absent, fat absorption is severely impaired, leading to steatorrhea and deficiency of fat-soluble vitamins (A, D, E, K). The clinical and laboratory hallmarks include fatty stools, low plasma cholesterol and triglycerides, acanthocytosis, and later, vitamin E–related neurologic issues and retinopathy. Other choices refer to different lipid disorders: Tangier disease is an ABCA1 deficiency causing extremely low HDL; Sitosterolemia involves accumulation of plant sterols due to defective sterol transport; Anderson's disease is an older term that sometimes appears in literature but the widely accepted alternate name for abetalipoproteinemia is Bassen-Kornzweig syndrome.

Abetalipoproteinemia is classically the Bassen-Kornzweig syndrome. This name comes from the physicians who first described the condition, tying the syndrome to a congenital defect in the assembly of apoB-containing lipoproteins (chylomicrons and VLDL) due to MTP dysfunction. Because apoB-containing lipoproteins are absent, fat absorption is severely impaired, leading to steatorrhea and deficiency of fat-soluble vitamins (A, D, E, K). The clinical and laboratory hallmarks include fatty stools, low plasma cholesterol and triglycerides, acanthocytosis, and later, vitamin E–related neurologic issues and retinopathy.

Other choices refer to different lipid disorders: Tangier disease is an ABCA1 deficiency causing extremely low HDL; Sitosterolemia involves accumulation of plant sterols due to defective sterol transport; Anderson's disease is an older term that sometimes appears in literature but the widely accepted alternate name for abetalipoproteinemia is Bassen-Kornzweig syndrome.

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